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Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na(v)1.7

BACKGROUND: Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Na(v)1.7, have previously been reported in subjects with CIP...

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Detalles Bibliográficos
Autores principales:	He, Wen, Young, Gareth T., Zhang, Baohong, Cox, Peter J., Cho, Lily Ting-Yin, John, Sally, Paciga, Sara A., Wood, Linda S., Danziger, Nicolas, Scollen, Serena, Vangjeli, Ciara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057094/ https://www.ncbi.nlm.nih.gov/pubmed/30037327 http://dx.doi.org/10.1186/s12881-018-0643-4

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